Canonical Allele Identifier: CA259804
Gene: BLOC1S6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30412
ClinVar RCV Id: RCV000023365
dbSNP Id: rs201348482

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45603107C>T , CM000677.2:g.45603107C>T GRCh38
NC_000015.9:g.45895305C>T , CM000677.1:g.45895305C>T GRCh37
NC_000015.8:g.43682597C>T NCBI36
NG_028194.2:g.20889C>T , LRG_883:g.20889C>T

Transcript Alleles

HGVS Amino-acid change
NM_001311255.1:c.247C>T VV NP_001298184.1:p.Gln83Ter
NM_001311256.1:c.240-2321C>T VV NP_001298185.1:p.=
NM_012388.2:c.232C>T VV NP_036520.1:p.Gln78Ter
NM_012388.3:c.232C>T , LRG_883t1:c.232C>T NP_036520.1:p.Gln78Ter
NR_132350.1:n.561C>T
NR_132351.1:n.549C>T
NR_132352.1:n.546-2321C>T
NR_132353.1:n.411C>T
NR_132354.1:n.407C>T
NR_132355.1:n.404-2321C>T
NR_132356.1:n.255C>T
NR_132357.1:n.255C>T
NR_132358.1:n.238-2321C>T
NR_132359.1:n.106-2321C>T
ENST00000220531.7:c.232C>T ENSP00000220531.3:p.Gln78Ter
ENST00000562384.5:c.-60C>T ENSP00000457077.1:p.=
ENST00000563000.5:n.238-2321C>T
ENST00000563160.5:n.194-2321C>T
ENST00000564080.1:c.-18+15582C>T ENSP00000455047.1:p.=
ENST00000564310.1:n.157C>T
ENST00000564765.1:c.-60C>T ENSP00000454537.1:p.=
ENST00000565216.5:c.109C>T ENSP00000456067.1:p.Gln37Ter
ENST00000565323.5:c.247C>T ENSP00000456851.1:p.Gln83Ter
ENST00000565409.5:c.-60C>T ENSP00000455599.1:p.=
ENST00000565727.5:n.106-2321C>T
ENST00000566184.1:n.148-2321C>T
ENST00000566801.5:c.-60C>T ENSP00000454715.1:p.=
ENST00000567461.5:c.-60C>T ENSP00000456152.1:p.=
ENST00000567523.5:c.228C>T ENSP00000456624.1:p.Thr76=
ENST00000567740.5:n.313-2321C>T
ENST00000568597.5:c.225-2321C>T ENSP00000454638.1:p.=
ENST00000568816.5:c.-60C>T ENSP00000455021.1:p.=
ENST00000568963.5:c.86C>T ENSP00000454438.1:p.Pro29Leu
ENST00000569076.5:c.82C>T ENSP00000454803.1:p.Gln28Ter